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Whole-Exome Analysis for Polish Caucasian Patients with Retinal Dystrophies and the Creation of a Reference Genomic Database for the Polish Population.

Genes - 1 Aug 2024

Matczyńska Ewa, Szymańczak Robert, Stradomska Katarzyna, Łyszkiewicz Przemysław, Jędrzejowska Maria, Kamińska Karolina, Beć-Gajowniczek Marta, Suchecka Ewa, Zagulski Marek, Wiącek Marta, Wylęgała Edward, Machalińska Anna, Mossakowska Małgorzata, Puzianowska-Kuźnicka Monika, Teper Sławomir, Boguszewska-Chachulska Anna

Abstract excerpt

We present the results of the first study of a large cohort of patients with inherited retinal dystrophies (IRD) performed for the Polish population using whole-exome sequencing (WES) in the years 2016-2019. Moreover, to facilitate such diagnostic analyses and enable future application of gene therapy and genome editing for IRD patients, a Polish genomic reference database (POLGENOM) was created based on...

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ATP-Binding Cassette Transporters
cis-trans-Isomerases
Databases, Genetic
Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Extracellular Matrix Proteins

Retinal Dystrophies

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Identifiers

PMID: 39202371
DOI: 10.3390/genes15081011
PMCID: PMC11353931

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